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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CACNA1F (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID778
Official gene symbolCACNA1F
Full namecalcium channel, voltage-dependent, L type, alpha 1F subunit
Aliases,AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,JM8,JMC8,OA2,
Gene summaryThis gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). [provided by RefSeq]
LocationChromosome: X   Locus: Xp11.23
Gene position49089833 - 49061523  Map Viewer
Gene orientationminus
Gene size28311 bp
Gene sequence
OMIM ID300110